Canonical Allele Identifier: CA387460769

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763093A>T (hg19) ; chr13:g.20188954A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188954A>T , CM000675.2:g.20188954A>T	GRCh38
NC_000013.10:g.20763093A>T , CM000675.1:g.20763093A>T	GRCh37
NC_000013.9:g.19661093A>T	NCBI36
NG_008358.1:g.9022T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.628T>A	ENSP00000372295.1:p.Leu210Met
ENST00000382848.5:c.628T>A MANE Select	ENSP00000372299.4:p.Leu210Met
ENST00000382844.1:c.628T>A	ENSP00000372295.1:p.Leu210Met
ENST00000382848.4:c.628T>A	ENSP00000372299.4:p.Leu210Met
NM_004004.5:c.628T>A	NP_003995.2:p.Leu210Met
XM_011535049.1:c.628T>A	XP_011533351.1:p.Leu210Met
XM_011535049.2:c.628T>A	XP_011533351.1:p.Leu210Met
NM_004004.6:c.628T>A MANE Select	NP_003995.2:p.Leu210Met